Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | X | 20161641 | splice donor variant | -/A | delins | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 19 | 13298768 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 78628133 | missense variant | A/G | snv | 0.38 | 0.36 | 0.710 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 2 | 165344371 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
16 | 0.763 | 0.320 | 2 | 166242648 | missense variant | A/G | snv | 0.88 | 0.88 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 2 | 166056450 | stop gained | A/G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
4 | 0.925 | 0.080 | 2 | 166041354 | synonymous variant | A/G;T | snv | 0.73; 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 186671995 | 3 prime UTR variant | A/T | snv | 4.6E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 5 | 162149412 | 3 prime UTR variant | C/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 2 | 166122240 | intron variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
23 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 165991477 | missense variant | C/A;T | snv | 2.0E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.827 | 0.080 | 8 | 67483807 | stop gained | C/A;T | snv | 4.0E-06; 2.0E-03 | 2.5E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.080 | 5 | 162097839 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
11 | 0.827 | 0.200 | 10 | 49664880 | missense variant | C/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
14 | 0.742 | 0.240 | 5 | 162101274 | synonymous variant | C/T | snv | 0.28 | 0.31 | 0.050 | 0.800 | 5 | 2012 | 2018 | |||
|
8 | 0.776 | 0.240 | 2 | 166053034 | splice region variant | C/T | snv | 0.48 | 0.030 | 1.000 | 3 | 2010 | 2014 | ||||
|
4 | 0.882 | 0.120 | 2 | 165308751 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.080 | 6 | 29610981 | missense variant | C/T | snv | 4.1E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 2 | 165292743 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 |